Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs770684782
rs770684782
9 132288268 stop gained G/A snv 4.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
0.010 1.000 1 2015 2015
dbSNP: rs770684782
rs770684782
9 132288268 stop gained G/A snv 4.0E-06
CUI: C0004134
Disease: Ataxia
Ataxia
0.010 1.000 1 2015 2015
dbSNP: rs770684782
rs770684782
9 132288268 stop gained G/A snv 4.0E-06
CUI: C0027066
Disease: Myoclonus
Myoclonus
0.010 1.000 1 2015 2015